Journal of Blood Medicine最新文献

Background: Methemoglobin is an altered state of hemoglobin where iron in hemoglobin is oxidized and incapable of binding oxygen; leading to complications such as cyanosis, dyspnea, headache, and heart failure. Methemoglobinemia can be congenital or acquired. Congenital methemoglobinemia is a rare disease and its worldwide incidence is unclear. We recently encountered the first documented case of congenital methemoglobinemia at our institution, necessitating perioperative care.

Case presentation: In the present case, a 22-year-old man with congenital methemoglobinemia underwent general anesthesia for dental extraction. The surgeon was informed to avoid local anesthetics and oxygenation was performed with FiO₂ of 1.0. Arterial blood gas analysis showed a PH of 7.337, PaO₂ of 302 mm Hg, PaCO₂ of 44 mm Hg, oxyhemoglobin level of 63.4%, and methemoglobin level of 37.8%. The patient had a stable course. No methylene blue therapy was required, although cyanosis was observed during surgery.

Conclusion: In summary, though rare, congenital methemoglobinemia poses fatal risks during surgery. Its management involves preoperative recognition and optimization, oxygenation status, multidisciplinary care, avoiding precipitating or oxidizing agents, discussing treatment options, maintaining cardiopulmonary stability, and ensuring perioperative safety measures with the medical team.

Introduction: The CD34+ hematopoietic cell count was used to define cell harvest goals. Successful peripheral blood stem cell transplantation depends on infusion of an appropriate number of HPCs to achieve rapid and durable hematologic recovery.

Purpose: In this study, we evaluated the use of the Hematopoietic Progenitor Cell count program on the Sysmex XN-3000 hematology analyzer as an effective parameter for enumerating CD34+ cells.

Patients and methods: Whole blood samples from 144 subjects who are either healthy donors or patients scheduled to undergo peripheral blood stem cell collection were collected and hemopoietic stem cells were quantified using CD34 cell enumeration by flow cytometry and XN-HPC by hematology analyzer.

Results: The correlation between the two methods was high (r = 0.766; 95% CI: 0.702-0.818). Passing-Bablok showed an intercept at 3.45 (2.54 to 4.74) with a slope of 0.78 (95% CI 0.69 to 0.89). Residual analysis of this model indicated no significant deviation from linearity (p = 0.360). The receiver operating characteristic curve demonstrated an area under curve to be 0.88 (0.82 to 0.92), with a positive predictive value of 80.3%. The correlation between CD34+ and XN-HPC showed a strong relationship and good agreement with minimal bias.

Conclusion: The XN-HPC showed good analytical performance. With the increasing requirements for stem cell transplantation, a technically simple and rapid alternative for stem cell enumeration that is sustainable is highly useful.

Congenital (cTTP) and immune-mediated (iTTP) thrombotic thrombocytopenic purpura are serious and rare clotting disorders resulting from a deficiency in the ADAMTS13 enzyme. A systematic review was conducted using the Ovid^® MEDLINE & Embase databases to synthesize the epidemiology and burden of cTTP and iTTP worldwide (from January 1, 2010, to February 6, 2020, with an update that covered the period January 1, 2020-February 11, 2022). Outcomes of interest were incidence and prevalence of TTP, incidence of acute episodes, mortality, burden of illness (eg complications, healthcare utilization, patient-reported outcomes) and disease management. A total of 221 eligible observational studies were included. The incidence rate of acute episodes ranged from 0.19-0.35 person-years in adult patients with cTTP, and 1.81-3.93 per million persons per year for iTTP in the general population. Triggers of acute episodes were similar for cTTP and iTTP, with pregnancy and infection the most commonly observed. Exacerbation in patients with iTTP varied widely, ranging from 2.4-63.1%. All-cause mortality was observed in 0-13.4% of patients with cTTP, across studies and follow-up periods, and in 1.1% (median follow-up: 0.4 years) to 18.8% (1 year) of patients with iTTP during acute episodes. Cardiovascular, renal, and neurological disease were common complications. TTP also led to work disturbances, feelings of anxiety and depression, and general activity impairment. TTP treatment regimens used were generally reflective of current treatment guidelines. The evidence identified describes a high patient burden, highlighting the need for effective treatment regimens leading to improvements in outcomes. Considerable evidence gaps exist, particularly for disease epidemiology, patient-reported outcomes, costs of disease management, and associated healthcare resource utilization. This review may help increase disease awareness and highlights the need for additional real-world studies, particularly in geographical regions outside the United States and Western Europe.

In this report, the patient was a 57-year-old woman who had been diagnosed with aplastic anemia for 3 years. This patient underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT). Twenty-four months after allo-HSCT, the patient experienced cognitive dysfunction, memory loss, and involuntary movements. Various central nervous system (CNS) complications may occur after allo-HSCT, which can lead to severe clinical problems. Diagnosis is often difficult because of the absence of distinctive clinical symptoms. In addition, different neurological disorders may show similar symptoms. Although antibodies in the CSF or serum have become well recognized in several CNS disorders, cases of autoimmune CNS disorders after allo-HSCT have rarely been reported. Here, we report the case of a patient who developed encephalitis associated with antibodies against glial fibrillary acidic protein (GFAP) after allo-HSCT. To the best of our knowledge, this is the first report of the involvement of antibodies against GFAP in post-transplantation encephalitis. Of course, all processes met the ethical and patient consents were obtained.

Vitamin B₁₂ is essential for various bodily functions, and its deficiency may cause hematological manifestations. We report a case of a previously healthy 65-year-old female who was admitted to our hospital with reduced sense of taste and painful tongue. The serum level of vitamin B₁₂ was decreased. However, her complete blood count did not show any evidence of macrocytosis, instead, her mean corpuscular volume was low. Gene sequencing indicated an β-thalassemia minor and that probably masked the megaloblastic features of vitamin B₁₂ deficiency.

Purpose: Our study aims to describe the mortality trends and disparities among individuals with thalassemia in the United States (US).

Patients and methods: We used CDC WONDER database to calculate the age-adjusted mortality rates (AAMRs) per 1,000,000 individuals and used the Joinpoint Regression Program to measure the average annual percent change (AAPC). Subgroup evaluations were performed by sex, age, race, census region, and urbanization level.

Results: From 1999 to 2020, there were 2797 deaths relatd to thalassemia in the US. The AAMR of thalassemia-related death showed a decreasing trend from 0.50 (95% CI, 0.41-0.58) in 1999 to 0.48 (95% CI, 0.41-0.55) in 2020 with the AAPC of -1.42 (95% CI, -2.42, -0.42). Asians have the highest AAMR (1.34 [95% CI, 1.20-1.47]), followed by non-Hispanic Blacks (0.65 [95% CI, 0.59-0.71]), non-Hispanic Whites (0.32 [95% CI, 0.30-0.33]), and Hispanics (0.11 [95% CI, 0.08-0.14]). Cardiovascular disease remains the leading cause of death among individuals with thalassemia. The urban population has a higher AAMR than the rural population (0.43 [95% CI, 0.41-0.45] vs 0.29 [95% CI, 0.26-0.32]).

Conclusion: Our study calls for targeted interventions to address the racial and geographic disparities existed among individuals of thalassemia in the US.

Background: No specific data have been systematically collected regarding lymphoma patient characteristics, while non-Hodgkin lymphoma (NHL) is identified as the 7^th most common cancer and Hodgkin lymphoma (HL) is the 28^th. Inflammation plays an important role in the pathogenesis and progression of lymphoma. Malnutrition is an adverse prognostic factor in lymphoma. Systemic Inflammatory Index (SII), Prognostic Nutritional Index (PNI), and Advanced Lung Cancer Inflammation Index (ALI) were biomarkers depicting inflammation and nutritional status. This study aims to describe the clinical and biomarker characteristics of both HL and NHL patients.

Methods: This descriptive study used a cross-sectional design, and data were collected from Hasan Sadikin Hospital lymphoma registry from January 2020 to November 2023. Demographic, staging, and histopathological data were extracted. Three biomarkers were evaluated. Survival curves were drawn using Kaplan-Meier curve analysis, and the log rank test was used for comparison of survival between early and advanced stage.

Results: A total of 271 patients were recruited as participants, and the majority (80.5%) had NHL, with diffuse large B-cell lymphoma (DLBCL) being the most common histopathological type (50.5%). Early disease was observed in two-thirds of patients, and low-risk International Prognostic Index (IPI) score was the most common prognostic score found (95%). SII was slightly higher in early compared to advanced stages. Treatment response was evaluated from 101 patients, and complete response was observed in 44.5%. Two-year overall survival (OS) was 93.1%, with median survival 22.7 (95% CI 21.9-23.5) months. In early stage, the median survival was slightly longer than in advanced stage [23.0 (95% CI 22.2-23.8) vs 21.6 (95% CI 19.3-23.8) months, P=0.09].

Conclusion: Hodgkin lymphoma and DLBCL had similar clinical and biomarker characteristics. There were slight differences between the three biomarkers SII, ALI, and PNI based on the disease stage. Almost all patients still survived at 2-year follow-up.

Multiple myeloma (MM) is a malignancy of plasma cells that can cause anemia due to renal failure and bone marrow failure. Secondary polycythemia (SE) is a clinically rare disease that involves the overproduction of red blood cells. To our knowledge, the association of multiple myeloma and polycythemia has been reported, but the association of SE and multiple myeloma is rare and has been infrequently reported in literature. In contrast to anemia, the presence of polycythemia in multiple myeloma patients is a rare finding. A patient of IgA-λ multiple myeloma with secondary erythrocytosis recently admitted to our department is now reported as follows and relevant literature is reviewed to improve clinicians' awareness of such rare comorbidities.

Combined thrombophilia represents 7.8-8.3% of the patients with thrombophilia and confers a higher risk for thrombosis development and recurrence. Here, we present a 17-year-old boy carrier of three congenital thrombophilias, two severe (type I antithrombin deficiency and type I protein S deficiency) and one prothrombotic polymorphism (prothrombin G20210A), all in heterozygosis. He developed an extensive deep venous thrombosis in lower left limb, reaching proximal inferior vena cava and contralateral iliac vein, in the setting of prolonged rest. Endovascular therapy with local thrombolytic agent infusion followed by mechanical thrombectomy was performed, achieving a favorable clinical and radiological evolution. Antithrombin replacement to achieve levels between 80% and 120% with heparin administration was used during the endovascular procedure. The patient is currently asymptomatic and maintains indefinite anticoagulation with warfarin, keeping an appropriate anticoagulation range (international normalized range between 2.5 and 3.5).

Primary cranial neurolymphomatosis (PCNL) is a rare subtype of primary CNS lymphoma (PCNSL) in which infiltrative lymphomatous involvement is confined to cranial nerves. Here, we report a case of PCNL with successful genomic profiling. A 57-year-old male had a lengthy prediagnostic phase spanning approximately 30 months, characterized by multiple episodes of cranial neuropathies managed by steroids. At the time of diagnosis, the patient had right-sided cranial neuropathies involving cranial nerves (CN) V, VI, and VII. Pathological findings of the right cavernous lesion biopsy were consistent with large B-cell lymphoma-infiltrating nerve fibers. The clinical course was aggressive and refractory, characterized by relentless progression with the development of cervical spinal neurolymphomatosis, cerebrospinal fluid involvement, and ependymal and intraparenchymal cerebral involvement, despite multiple lines of therapy, including chemoimmunotherapy, Bruton's tyrosine kinase inhibitor, radiation, autologous stem cell transplant, chimeric antigen receptor T-cell therapy (CAR-T), and whole-brain radiation. The patient survived for 22 months from the time of the initial diagnosis and 52 months after the first episode of cranial neuropathy. Next-generation sequencing identified mutations (MYD88, CD79b, and PIM1) that are frequently observed in PCNSL. The unusual findings included a total of 22 mutations involving PIM1, indicating a highly active aberrant somatic hypermutation and two missense CXCR4 mutations. CXCR4 mutations have never been described in PCNSL and may have implications for disease biology and therapeutic interventions. We provide a literature review to further elucidate PCNL.